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Newborn Screening ACT Sheet

[FA + Barts Hb]
Alpha (α) Thalassemia (phenotype varies with % Barts Hb)

Differential Diagnosis: Hemoglobin A/Barts.

Condition Description: A red blood cell disorder characterized by presence of fetal hemoglobin (F) and hemoglobin A. The hemoglobins (Hb) are listed in order of the amount of hemoglobin present (F>A>Barts or F>Barts>A) depending on percent of Barts hemoglobin.


  • Contact family family to inform them of the screening result.
  • Evaluate infant, assess for splenomegaly, and do complete blood count (CBC) for Hb, and mean corpuscular volume (MCV).
  • Order hemoglobin profile analysis (usually performed by electrophoresis).
  • Consult a specialist in hemoglobin disorders; refer if needed.
  • Initiate timely confirmatory/diagnostic testing as recommended by consultant.
  • Report findings to newborn screening program.

Diagnostic Evaluation:

CBC and MCV. Hemoglobin separation by electrophoresis, isoelectric focusing (IEF), or high performance liquid chromatography (HPLC), shows FA+Barts pattern. DNA studies may be used to confirm genotype.

Clinical Considerations:

Severity depends on the number of the four alpha globin genes that are lost. Presence of less than 25% Hb Barts indicates loss of one (silent carrier) or two (alpha thalassemia trait) genes. Individuals are asymptomatic with laboratory features that are normal or may resemble iron deficiency anemia. Hemoglobin Barts above 25% in the newborn indicates a hemoglobin H disease, a clinically significant form of alpha thalassemia, is likely. Deletion or dysfunction of 3 of the 4 alpha globin genes manifests as Hb H disease. Hb H disease is characterized by splenomegaly and anemia that may require intermittent transfusions. Absence of all four alpha globin genes results in hydrops fetalis and is usually fatal, in utero or shortly after birth.

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